Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes
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DOI: 10.3389/fgene.2021.605778
Abstract: Objective: Variant non-ketotic hyperglycinaemia (NKH) is a rare disorder characterized by variable clinical, biochemical, and imaging features. The variant form of NKH is rare and characterized by variable clinical, biochemical and imaging features. Subjects: Herein,… read more here.
Keywords: glrx5; respiratory chain; variant non; variant ... See more keywords
Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2024.1432272
Abstract: Nonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes AMT, GLDC or GCSH involved in the glycine cleavage complex. Other genes have been linked with less severe NKH,… read more here.
Keywords: phenotypic variability; report; glrx5; case ... See more keywords
Loss and Recovery of Glutaredoxin 5 Is Inducible by Diet in a Murine Model of Diabesity and Mediated by Free Fatty Acids In Vitro
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DOI: 10.3390/antiox11040788
Abstract: Free fatty acids (FFA), hyperglycemia, and inflammatory cytokines are major mediators of β-cell toxicity in type 2 diabetes mellitus, impairing mitochondrial metabolism. Glutaredoxin 5 (Glrx5) is a mitochondrial protein involved in the assembly of iron–sulfur… read more here.
Keywords: diabesity; loss; fatty acids; glrx5 ... See more keywords